Variant report

Variant	rs33444
Chromosome Location	chr5:52280809-52280810
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52278874..52281430-chr5:52281937..52284347,4	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12517213	0.95[EUR][1000 genomes]
rs1645761	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs190310	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2264397	0.95[EUR][1000 genomes]
rs2432230	0.93[EUR][1000 genomes]
rs26680	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs27618	0.88[EUR][1000 genomes]
rs35236	0.83[EUR][1000 genomes]
rs397808	0.81[EUR][1000 genomes]
rs462383	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52273600-52283800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:52279000-52283400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:52279000-52283400	Enhancers	HUVEC	blood vessel
4	chr5:52279200-52283400	Enhancers	HMEC	breast
5	chr5:52279200-52284000	Enhancers	NHEK	skin
6	chr5:52279200-52284200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:52279400-52281600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:52279400-52281600	Enhancers	NHDF-Ad	bronchial
9	chr5:52279400-52282200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:52279400-52283200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:52279400-52283200	Enhancers	Hela-S3	cervix
12	chr5:52279400-52283400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:52279800-52281200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:52280000-52281200	Weak transcription	Osteobl	bone
15	chr5:52280200-52283200	Weak transcription	NH-A	brain
16	chr5:52280600-52281000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:52280600-52281000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:52280600-52281200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:52280800-52281000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:52280800-52283200	Weak transcription	A549	lung
21	chr5:52280800-52283200	Weak transcription	NHLF	lung

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